PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China

Abstract

Background and purpose: Proline-rich transmembrane protein 2 (PRRT2) has recently been identified as a causative gene of paroxysmal kinesigenic dyskinesia (PKD). However, the frequencies of its mutations and their correlation with the clinical features of PKD remain largely unknown.

Methods: Four exons of PRRT2 in 33 patients with PKD from Southwest China were screened by direct sequencing in this study.

Results: The mean onset age of the patients was 12.50 ± 2.70 years. Sixteen patients (48.48%) had sensory aura before their attacks. In total, 66.67% of the patients were running when the attacks occurred. c.649_650insC (p.P217fsX7), the most commonly reported insertion mutation, was identified in nine patients (27.27%).

Conclusions: Other genes are involved in the development of PKD, but PRRT2 is a common causative gene for patients with PKD from Southwest China.

Keywords: c.649_650insC; mutation; paroxysmal kinesigenic dyskinesia; proline-rich transmembrane protein 2.